More Antibodies against CCDC39 Interaction Partners

Human Coiled-Coil Domain Containing 39 (CCDC39) interaction partners

Lung disease was worse in those with IDA (show IDUA Antibodies)/CA/MTD (show MT1E Antibodies) ultrastructural defects, most of whom had biallelic mutations in ccdc39.

This study shows that CCDC39 and CCDC40 (show CCDC40 Antibodies) mutations are the major cause of Primary ciliary dyskinesia in patients with the previously termed "radial spoke defect".

Aiming to delineate the CCDC39/CCDC40 mutation spectrum and associated phenotypes, a large cohort of patients with IDA defects were screened. Biallelic CCDC39 or CCDC40 mutations were identified in 30/34 unrelated families with IDA defects.

Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex.

FAP59 forms a complex with FAP172, and serves as a molecular ruler for the axonemal 96-nm repeat structures. [FAP59]

CCDC39 Antigen Profile

Protein Summary

The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14).